Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q401*
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SOX9

NM_000346.4:p.Q401*

Associated Papers

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Identification of candidate genes encoding tumor-specific neoantigens in early- and late-stage colon adenocarcinoma.

Wang C et al.

Aging, 2021

33428592 (PubMed )
Supplement: aging-13-202370-s002.xlsx › neoantigen_NvsE

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S6T2

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

Mattos EP et al.

Genetics and Molecular Biology, 2015

25983619 (PubMed )
Supplement: 1415-4757-gmb-38-1-14-suppl03.pdf

A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.

Stoeva R et al.

Genetic Counseling (geneva, Switzerland), 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."